Chr Mutation (hg38) CAid Gene Transcript Linkouts
14g.21312451_21312471delCA2624070065RPGRIP1c.1096_1116del (p.Asp366_Lys372del)
c.1015_1035del (p.Asp339_Lys345del)
c.1063_1083del (p.Asp355_Lys361del)
 gnomAD v4
14g.21312462delCA227902RPGRIP1c.1107del (p.Glu370AsnfsTer5)
c.1026del (p.Glu343AsnfsTer5)
c.1074del (p.Glu359AsnfsTer5)
 ClinVar dbSNP gnomAD v2 gnomAD v4
14g.21312462A>CCA388862797RPGRIP1c.1107A>C (p.Lys369Asn)
c.1026A>C (p.Lys342Asn)
c.1074A>C (p.Lys358Asn)
14g.21312462A>GCA484991132RPGRIP1c.1107A>G (p.Lys369=)
c.1026A>G (p.Lys342=)
c.1074A>G (p.Lys358=)
 ClinVar
14g.21312462A>TCA388862799RPGRIP1c.1107A>T (p.Lys369Asn)
c.1026A>T (p.Lys342Asn)
c.1074A>T (p.Lys358Asn)
14g.21312463G>ACA388862803RPGRIP1c.1108G>A (p.Glu370Lys)
c.1027G>A (p.Glu343Lys)
c.1075G>A (p.Glu359Lys)
 gnomAD v4
14g.21312463G>CCA7088871RPGRIP1c.1108G>C (p.Glu370Gln)
c.1027G>C (p.Glu343Gln)
c.1075G>C (p.Glu359Gln)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.21312463G=CA2122452844RPGRIP1c.1108G= (p.Glu370=)
c.1027G= (p.Glu343=)
c.1075G= (p.Glu359=)
14g.21312463G>TCA388862801RPGRIP1c.1108G>T (p.Glu370Ter)
c.1027G>T (p.Glu343Ter)
c.1075G>T (p.Glu359Ter)
 gnomAD v4
14g.21312464A>CCA388862804RPGRIP1c.1109A>C (p.Glu370Ala)
c.1028A>C (p.Glu343Ala)
c.1076A>C (p.Glu359Ala)
14g.21312464A>GCA388862807RPGRIP1c.1109A>G (p.Glu370Gly)
c.1028A>G (p.Glu343Gly)
c.1076A>G (p.Glu359Gly)
14g.21312464A>TCA388862806RPGRIP1c.1109A>T (p.Glu370Val)
c.1028A>T (p.Glu343Val)
c.1076A>T (p.Glu359Val)
14g.21312465A=CA2122452846RPGRIP1c.1110A= (p.Glu370=)
c.1029A= (p.Glu343=)
c.1077A= (p.Glu359=)
14g.21312465A>CCA388862809RPGRIP1c.1110A>C (p.Glu370Asp)
c.1029A>C (p.Glu343Asp)
c.1077A>C (p.Glu359Asp)
14g.21312465A>GCA484991139RPGRIP1c.1110A>G (p.Glu370=)
c.1029A>G (p.Glu343=)
c.1077A>G (p.Glu359=)
 dbSNP gnomAD v4
14g.21312465A>TCA388862810RPGRIP1c.1110A>T (p.Glu370Asp)
c.1029A>T (p.Glu343Asp)
c.1077A>T (p.Glu359Asp)
14g.21312466C>ACA484991141RPGRIP1c.1111C>A (p.Arg371=)
c.1030C>A (p.Arg344=)
c.1078C>A (p.Arg360=)
 dbSNP gnomAD v2 gnomAD v4
14g.21312466C=CA2122452848RPGRIP1c.1111C= (p.Arg371=)
c.1030C= (p.Arg344=)
c.1078C= (p.Arg360=)
14g.21312466C>GCA388862811RPGRIP1c.1111C>G (p.Arg371Gly)
c.1030C>G (p.Arg344Gly)
c.1078C>G (p.Arg360Gly)
 gnomAD v4
14g.21312466C>TCA7088872RPGRIP1c.1111C>T (p.Arg371Ter)
c.1030C>T (p.Arg344Ter)
c.1078C>T (p.Arg360Ter)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.21312467G>ACA7088873RPGRIP1c.1112G>A (p.Arg371Gln)
c.1031G>A (p.Arg344Gln)
c.1079G>A (p.Arg360Gln)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
14g.21312467G>CCA388862815RPGRIP1c.1112G>C (p.Arg371Pro)
c.1031G>C (p.Arg344Pro)
c.1079G>C (p.Arg360Pro)
 gnomAD v4
14g.21312467G=CA2122452852RPGRIP1c.1112G= (p.Arg371=)
c.1031G= (p.Arg344=)
c.1079G= (p.Arg360=)
14g.21312467G>TCA388862816RPGRIP1c.1112G>T (p.Arg371Leu)
c.1031G>T (p.Arg344Leu)
c.1079G>T (p.Arg360Leu)
 gnomAD v4 COSMIC
14g.21312467_21312468delinsGACA2122452851RPGRIP1c.1112_1113delinsGA (p.Arg371=)
c.1031_1032delinsGA (p.Arg344=)
c.1079_1080delinsGA (p.Arg360=)
14g.21312468A=CA2122452859RPGRIP1c.1113A= (p.Arg371=)
c.1032A= (p.Arg344=)
c.1080A= (p.Arg360=)
14g.21312468A>CCA484991145RPGRIP1c.1113A>C (p.Arg371=)
c.1032A>C (p.Arg344=)
c.1080A>C (p.Arg360=)
14g.21312468A>GCA7088875RPGRIP1c.1113A>G (p.Arg371=)
c.1032A>G (p.Arg344=)
c.1080A>G (p.Arg360=)
 dbSNP ExAC gnomAD v2 gnomAD v4
14g.21312468A>TCA484991147RPGRIP1c.1113A>T (p.Arg371=)
c.1032A>T (p.Arg344=)
c.1080A>T (p.Arg360=)
14g.21312471delCA7088874RPGRIP1c.1116del (p.Lys372AsnfsTer3)
c.1035del (p.Lys345AsnfsTer3)
c.1083del (p.Lys361AsnfsTer3)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.21312469A>CCA388862820RPGRIP1c.1114A>C (p.Lys372Gln)
c.1033A>C (p.Lys345Gln)
c.1081A>C (p.Lys361Gln)
14g.21312469A>GCA388862821RPGRIP1c.1114A>G (p.Lys372Glu)
c.1033A>G (p.Lys345Glu)
c.1081A>G (p.Lys361Glu)
14g.21312469A>TCA388862822RPGRIP1c.1114A>T (p.Lys372Ter)
c.1033A>T (p.Lys345Ter)
c.1081A>T (p.Lys361Ter)
14g.21312470A>CCA388862824RPGRIP1c.1115A>C (p.Lys372Thr)
c.1034A>C (p.Lys345Thr)
c.1082A>C (p.Lys361Thr)
 gnomAD v4
14g.21312470A>GCA388862826RPGRIP1c.1115A>G (p.Lys372Arg)
c.1034A>G (p.Lys345Arg)
c.1082A>G (p.Lys361Arg)
14g.21312470A>TCA388862828RPGRIP1c.1115A>T (p.Lys372Ile)
c.1034A>T (p.Lys345Ile)
c.1082A>T (p.Lys361Ile)
14g.21312471A=CA2122452862RPGRIP1c.1116A= (p.Lys372=)
c.1035A= (p.Lys345=)
c.1083A= (p.Lys361=)
14g.21312471A>CCA388862829RPGRIP1c.1116A>C (p.Lys372Asn)
c.1035A>C (p.Lys345Asn)
c.1083A>C (p.Lys361Asn)
14g.21312471A>GCA7088876RPGRIP1c.1116A>G (p.Lys372=)
c.1035A>G (p.Lys345=)
c.1083A>G (p.Lys361=)
 dbSNP ExAC gnomAD v2 gnomAD v4
14g.21312471A>TCA388862831RPGRIP1c.1116A>T (p.Lys372Asn)
c.1035A>T (p.Lys345Asn)
c.1083A>T (p.Lys361Asn)
14g.21312472T>ACA388862834RPGRIP1c.1117T>A (p.Leu373Met)
c.1036T>A (p.Leu346Met)
c.1084T>A (p.Leu362Met)
14g.21312472T>CCA484991153RPGRIP1c.1117T>C (p.Leu373=)
c.1036T>C (p.Leu346=)
c.1084T>C (p.Leu362=)
14g.21312472T>GCA388862835RPGRIP1c.1117T>G (p.Leu373Val)
c.1036T>G (p.Leu346Val)
c.1084T>G (p.Leu362Val)
14g.21312473T>ACA388862836RPGRIP1c.1118T>A (p.Leu373Ter)
c.1037T>A (p.Leu346Ter)
c.1085T>A (p.Leu362Ter)
14g.21312473T>CCA388862838RPGRIP1c.1118T>C (p.Leu373Ser)
c.1037T>C (p.Leu346Ser)
c.1085T>C (p.Leu362Ser)
 ClinVar
14g.21312473T>GCA388862839RPGRIP1c.1118T>G (p.Leu373Trp)
c.1037T>G (p.Leu346Trp)
c.1085T>G (p.Leu362Trp)
14g.21312474G>ACA484991155RPGRIP1c.1119G>A (p.Leu373=)
c.1038G>A (p.Leu346=)
c.1086G>A (p.Leu362=)
14g.21312474G>CCA388862841RPGRIP1c.1119G>C (p.Leu373Phe)
c.1038G>C (p.Leu346Phe)
c.1086G>C (p.Leu362Phe)
14g.21312474G=CA2122452866RPGRIP1c.1119G= (p.Leu373=)
c.1038G= (p.Leu346=)
c.1086G= (p.Leu362=)
14g.21312474G>TCA257501656RPGRIP1c.1119G>T (p.Leu373Phe)
c.1038G>T (p.Leu346Phe)
c.1086G>T (p.Leu362Phe)
 dbSNP gnomAD v3 gnomAD v4
14g.21312475C>ACA388862843RPGRIP1c.1120C>A (p.Leu374Met)
c.1039C>A (p.Leu347Met)
c.1087C>A (p.Leu363Met)
 gnomAD v4
14g.21312475C>GCA388862845RPGRIP1c.1120C>G (p.Leu374Val)
c.1039C>G (p.Leu347Val)
c.1087C>G (p.Leu363Val)
14g.21312475C>TCA484991158RPGRIP1c.1120C>T (p.Leu374=)
c.1039C>T (p.Leu347=)
c.1087C>T (p.Leu363=)
14g.21312476T>ACA388862849RPGRIP1c.1121T>A (p.Leu374Gln)
c.1040T>A (p.Leu347Gln)
c.1088T>A (p.Leu363Gln)
 gnomAD v4
14g.21312476T>CCA388862847RPGRIP1c.1121T>C (p.Leu374Pro)
c.1040T>C (p.Leu347Pro)
c.1088T>C (p.Leu363Pro)
14g.21312476T>GCA388862846RPGRIP1c.1121T>G (p.Leu374Arg)
c.1040T>G (p.Leu347Arg)
c.1088T>G (p.Leu363Arg)
14g.21312477G>ACA484991160RPGRIP1c.1122G>A (p.Leu374=)
c.1041G>A (p.Leu347=)
c.1089G>A (p.Leu363=)
14g.21312477G>CCA484991162RPGRIP1c.1122G>C (p.Leu374=)
c.1041G>C (p.Leu347=)
c.1089G>C (p.Leu363=)
 dbSNP
14g.21312477G=CA2122452868RPGRIP1c.1122G= (p.Leu374=)
c.1041G= (p.Leu347=)
c.1089G= (p.Leu363=)
14g.21312477G>TCA484991165RPGRIP1c.1122G>T (p.Leu374=)
c.1041G>T (p.Leu347=)
c.1089G>T (p.Leu363=)
14g.21312478A>CCA388862851RPGRIP1c.1123A>C (p.Asn375His)
c.1042A>C (p.Asn348His)
c.1090A>C (p.Asn364His)
14g.21312478A>GCA388862853RPGRIP1c.1123A>G (p.Asn375Asp)
c.1042A>G (p.Asn348Asp)
c.1090A>G (p.Asn364Asp)
14g.21312478A>TCA388862854RPGRIP1c.1123A>T (p.Asn375Tyr)
c.1042A>T (p.Asn348Tyr)
c.1090A>T (p.Asn364Tyr)
14g.21312479A>CCA388862856RPGRIP1c.1124A>C (p.Asn375Thr)
c.1043A>C (p.Asn348Thr)
c.1091A>C (p.Asn364Thr)
14g.21312479A>GCA388862857RPGRIP1c.1124A>G (p.Asn375Ser)
c.1043A>G (p.Asn348Ser)
c.1091A>G (p.Asn364Ser)
 dbSNP gnomAD v3 gnomAD v4
14g.21312479A>TCA388862859RPGRIP1c.1124A>T (p.Asn375Ile)
c.1043A>T (p.Asn348Ile)
c.1091A>T (p.Asn364Ile)
14g.21312480T>ACA388862861RPGRIP1c.1125T>A (p.Asn375Lys)
c.1044T>A (p.Asn348Lys)
c.1092T>A (p.Asn364Lys)
14g.21312480T>CCA484991170RPGRIP1c.1125T>C (p.Asn375=)
c.1044T>C (p.Asn348=)
c.1092T>C (p.Asn364=)
14g.21312480T>GCA388862862RPGRIP1c.1125T>G (p.Asn375Lys)
c.1044T>G (p.Asn348Lys)
c.1092T>G (p.Asn364Lys)
14g.21312481G>ACA388862863RPGRIP1c.1126G>A (p.Asp376Asn)
c.1045G>A (p.Asp349Asn)
c.1093G>A (p.Asp365Asn)
14g.21312481G>CCA388862864RPGRIP1c.1126G>C (p.Asp376His)
c.1045G>C (p.Asp349His)
c.1093G>C (p.Asp365His)
14g.21312481G>TCA388862866RPGRIP1c.1126G>T (p.Asp376Tyr)
c.1045G>T (p.Asp349Tyr)
c.1093G>T (p.Asp365Tyr)
14g.21312482A=CA2122452870RPGRIP1c.1127A= (p.Asp376=)
c.1046A= (p.Asp349=)
c.1094A= (p.Asp365=)
14g.21312482A>CCA388862871RPGRIP1c.1127A>C (p.Asp376Ala)
c.1046A>C (p.Asp349Ala)
c.1094A>C (p.Asp365Ala)
 gnomAD v4
14g.21312482A>GCA388862869RPGRIP1c.1127A>G (p.Asp376Gly)
c.1046A>G (p.Asp349Gly)
c.1094A>G (p.Asp365Gly)
 dbSNP gnomAD v4
14g.21312482A>TCA388862868RPGRIP1c.1127A>T (p.Asp376Val)
c.1046A>T (p.Asp349Val)
c.1094A>T (p.Asp365Val)
14g.21312483C>ACA388862872RPGRIP1c.1128C>A (p.Asp376Glu)
c.1047C>A (p.Asp349Glu)
c.1095C>A (p.Asp365Glu)
 gnomAD v4
14g.21312483C=CA2122452873RPGRIP1c.1128C= (p.Asp376=)
c.1047C= (p.Asp349=)
c.1095C= (p.Asp365=)
14g.21312483C>GCA388862874RPGRIP1c.1128C>G (p.Asp376Glu)
c.1047C>G (p.Asp349Glu)
c.1095C>G (p.Asp365Glu)
 dbSNP gnomAD v4
14g.21312483C>TCA484991175RPGRIP1c.1128C>T (p.Asp376=)
c.1047C>T (p.Asp349=)
c.1095C>T (p.Asp365=)
14g.21312484A>CCA388862876RPGRIP1c.1129A>C (p.Asn377His)
c.1048A>C (p.Asn350His)
c.1096A>C (p.Asn366His)
 gnomAD v4
14g.21312484A>GCA388862878RPGRIP1c.1129A>G (p.Asn377Asp)
c.1048A>G (p.Asn350Asp)
c.1096A>G (p.Asn366Asp)
14g.21312484A>TCA388862879RPGRIP1c.1129A>T (p.Asn377Tyr)
c.1048A>T (p.Asn350Tyr)
c.1096A>T (p.Asn366Tyr)
14g.21312485A=CA2122452876RPGRIP1c.1130A= (p.Asn377=)
c.1049A= (p.Asn350=)
c.1097A= (p.Asn366=)
14g.21312485A>CCA388862880RPGRIP1c.1130A>C (p.Asn377Thr)
c.1049A>C (p.Asn350Thr)
c.1097A>C (p.Asn366Thr)
14g.21312485A>GCA7088877RPGRIP1c.1130A>G (p.Asn377Ser)
c.1049A>G (p.Asn350Ser)
c.1097A>G (p.Asn366Ser)
 dbSNP ExAC gnomAD v2 gnomAD v4
14g.21312485A>TCA388862883RPGRIP1c.1130A>T (p.Asn377Ile)
c.1049A>T (p.Asn350Ile)
c.1097A>T (p.Asn366Ile)
14g.21312486T>ACA388862884RPGRIP1c.1131T>A (p.Asn377Lys)
c.1050T>A (p.Asn350Lys)
c.1098T>A (p.Asn366Lys)
14g.21312486T>CCA484991179RPGRIP1c.1131T>C (p.Asn377=)
c.1050T>C (p.Asn350=)
c.1098T>C (p.Asn366=)
14g.21312486T>GCA388862886RPGRIP1c.1131T>G (p.Asn377Lys)
c.1050T>G (p.Asn350Lys)
c.1098T>G (p.Asn366Lys)
 COSMIC
14g.21312487T>ACA388862888RPGRIP1c.1132T>A (p.Tyr378Asn)
c.1051T>A (p.Tyr351Asn)
c.1099T>A (p.Tyr367Asn)
 gnomAD v4
14g.21312487T>CCA388862890RPGRIP1c.1132T>C (p.Tyr378His)
c.1051T>C (p.Tyr351His)
c.1099T>C (p.Tyr367His)
14g.21312487T>GCA388862891RPGRIP1c.1132T>G (p.Tyr378Asp)
c.1051T>G (p.Tyr351Asp)
c.1099T>G (p.Tyr367Asp)
14g.21312487T=CA2122452878RPGRIP1c.1132T= (p.Tyr378=)
c.1051T= (p.Tyr351=)
c.1099T= (p.Tyr367=)
14g.21312488A>CCA388862895RPGRIP1c.1133A>C (p.Tyr378Ser)
c.1052A>C (p.Tyr351Ser)
c.1100A>C (p.Tyr367Ser)
14g.21312488A>GCA388862897RPGRIP1c.1133A>G (p.Tyr378Cys)
c.1052A>G (p.Tyr351Cys)
c.1100A>G (p.Tyr367Cys)
 gnomAD v4
14g.21312488A>TCA388862893RPGRIP1c.1133A>T (p.Tyr378Phe)
c.1052A>T (p.Tyr351Phe)
c.1100A>T (p.Tyr367Phe)
14g.21312488dupCA612371636RPGRIP1c.1133dup (p.Tyr378Ter)
c.1052dup (p.Tyr351Ter)
c.1100dup (p.Tyr367Ter)
 ClinVar dbSNP gnomAD v2 gnomAD v4
14g.21312489T>ACA388862900RPGRIP1c.1134T>A (p.Tyr378Ter)
c.1053T>A (p.Tyr351Ter)
c.1101T>A (p.Tyr367Ter)
14g.21312489T>CCA484991183RPGRIP1c.1134T>C (p.Tyr378=)
c.1053T>C (p.Tyr351=)
c.1101T>C (p.Tyr367=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
14g.21312489T>GCA388862898RPGRIP1c.1134T>G (p.Tyr378Ter)
c.1053T>G (p.Tyr351Ter)
c.1101T>G (p.Tyr367Ter)
14g.21312489T=CA2122452890RPGRIP1c.1134T= (p.Tyr378=)
c.1053T= (p.Tyr351=)
c.1101T= (p.Tyr367=)
14g.21312490G>ACA7088878RPGRIP1c.1135G>A (p.Asp379Asn)
c.1054G>A (p.Asp352Asn)
c.1102G>A (p.Asp368Asn)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.21312490G>CCA388862902RPGRIP1c.1135G>C (p.Asp379His)
c.1054G>C (p.Asp352His)
c.1102G>C (p.Asp368His)
14g.21312490G=CA2122452894RPGRIP1c.1135G= (p.Asp379=)
c.1054G= (p.Asp352=)
c.1102G= (p.Asp368=)
14g.21312490G>TCA388862904RPGRIP1c.1135G>T (p.Asp379Tyr)
c.1054G>T (p.Asp352Tyr)
c.1102G>T (p.Asp368Tyr)
14g.21312491A>CCA388862905RPGRIP1c.1136A>C (p.Asp379Ala)
c.1055A>C (p.Asp352Ala)
c.1103A>C (p.Asp368Ala)
14g.21312491A>GCA388862907RPGRIP1c.1136A>G (p.Asp379Gly)
c.1055A>G (p.Asp352Gly)
c.1103A>G (p.Asp368Gly)
14g.21312491A>TCA388862909RPGRIP1c.1136A>T (p.Asp379Val)
c.1055A>T (p.Asp352Val)
c.1103A>T (p.Asp368Val)
14g.21312492C>ACA388862911RPGRIP1c.1137C>A (p.Asp379Glu)
c.1056C>A (p.Asp352Glu)
c.1104C>A (p.Asp368Glu)
14g.21312492C=CA2122452896RPGRIP1c.1137C= (p.Asp379=)
c.1056C= (p.Asp352=)
c.1104C= (p.Asp368=)
14g.21312492C>GCA388862912RPGRIP1c.1137C>G (p.Asp379Glu)
c.1056C>G (p.Asp352Glu)
c.1104C>G (p.Asp368Glu)
14g.21312492C>TCA484991190RPGRIP1c.1137C>T (p.Asp379=)
c.1056C>T (p.Asp352=)
c.1104C>T (p.Asp368=)
 dbSNP gnomAD v2 gnomAD v4
14g.21312492_21312493delinsCACA2122452897RPGRIP1c.1137_1138delinsCA (p.Asp379=)
c.1056_1057delinsCA (p.Asp352=)
c.1104_1105delinsCA (p.Asp368=)
14g.21312493A>CCA388862913RPGRIP1c.1138A>C (p.Lys380Gln)
c.1057A>C (p.Lys353Gln)
c.1105A>C (p.Lys369Gln)
 gnomAD v4
14g.21312493A>GCA388862914RPGRIP1c.1138A>G (p.Lys380Glu)
c.1057A>G (p.Lys353Glu)
c.1105A>G (p.Lys369Glu)
 gnomAD v4
14g.21312493A>TCA388862915RPGRIP1c.1138A>T (p.Lys380Ter)
c.1057A>T (p.Lys353Ter)
c.1105A>T (p.Lys369Ter)
14g.21312495delCA960927427RPGRIP1c.1140del (p.Lys380AsnfsTer3)
c.1059del (p.Lys353AsnfsTer3)
c.1107del (p.Lys369AsnfsTer3)
 dbSNP gnomAD v3 gnomAD v4
14g.21312494A>CCA388862917RPGRIP1c.1139A>C (p.Lys380Thr)
c.1058A>C (p.Lys353Thr)
c.1106A>C (p.Lys369Thr)
 COSMIC
14g.21312494A>GCA388862918RPGRIP1c.1139A>G (p.Lys380Arg)
c.1058A>G (p.Lys353Arg)
c.1106A>G (p.Lys369Arg)
14g.21312494A>TCA388862916RPGRIP1c.1139A>T (p.Lys380Ile)
c.1058A>T (p.Lys353Ile)
c.1106A>T (p.Lys369Ile)
14g.21312495A>CCA388862919RPGRIP1c.1140A>C (p.Lys380Asn)
c.1059A>C (p.Lys353Asn)
c.1107A>C (p.Lys369Asn)
14g.21312495A>GCA484991196RPGRIP1c.1140A>G (p.Lys380=)
c.1059A>G (p.Lys353=)
c.1107A>G (p.Lys369=)
 COSMIC
14g.21312495A>TCA388862920RPGRIP1c.1140A>T (p.Lys380Asn)
c.1059A>T (p.Lys353Asn)
c.1107A>T (p.Lys369Asn)
14g.21312496C>ACA388862921RPGRIP1c.1141C>A (p.Leu381Ile)
c.1060C>A (p.Leu354Ile)
c.1108C>A (p.Leu370Ile)
14g.21312496C=CA2122452900RPGRIP1c.1141C= (p.Leu381=)
c.1060C= (p.Leu354=)
c.1108C= (p.Leu370=)
14g.21312496C>GCA388862922RPGRIP1c.1141C>G (p.Leu381Val)
c.1060C>G (p.Leu354Val)
c.1108C>G (p.Leu370Val)
14g.21312496C>TCA388862923RPGRIP1c.1141C>T (p.Leu381Phe)
c.1060C>T (p.Leu354Phe)
c.1108C>T (p.Leu370Phe)
14g.21312497T>ACA7088880RPGRIP1c.1142T>A (p.Leu381His)
c.1061T>A (p.Leu354His)
c.1109T>A (p.Leu370His)
 dbSNP ExAC gnomAD v2 gnomAD v4
14g.21312497T>CCA388862925RPGRIP1c.1142T>C (p.Leu381Pro)
c.1061T>C (p.Leu354Pro)
c.1109T>C (p.Leu370Pro)
14g.21312497T>GCA388862924RPGRIP1c.1142T>G (p.Leu381Arg)
c.1061T>G (p.Leu354Arg)
c.1109T>G (p.Leu370Arg)
14g.21312497T=CA2122452904RPGRIP1c.1142T= (p.Leu381=)
c.1061T= (p.Leu354=)
c.1109T= (p.Leu370=)
14g.21312498_21312500dupCA7088879RPGRIP1c.1143_1145dup (p.Leu381_Leu382insPhe)
c.1062_1064dup (p.Leu354_Leu355insPhe)
c.1110_1112dup (p.Leu370_Leu371insPhe)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.21312498C>ACA484991205RPGRIP1c.1143C>A (p.Leu381=)
c.1062C>A (p.Leu354=)
c.1110C>A (p.Leu370=)
14g.21312498C>GCA484991207RPGRIP1c.1143C>G (p.Leu381=)
c.1062C>G (p.Leu354=)
c.1110C>G (p.Leu370=)
14g.21312498C>TCA484991209RPGRIP1c.1143C>T (p.Leu381=)
c.1062C>T (p.Leu354=)
c.1110C>T (p.Leu370=)
 gnomAD v4
14g.21312499T>ACA388862926RPGRIP1c.1144T>A (p.Leu382Ile)
c.1063T>A (p.Leu355Ile)
c.1111T>A (p.Leu371Ile)
14g.21312499T>CCA484991212RPGRIP1c.1144T>C (p.Leu382=)
c.1063T>C (p.Leu355=)
c.1111T>C (p.Leu371=)
14g.21312499T>GCA388862927RPGRIP1c.1144T>G (p.Leu382Val)
c.1063T>G (p.Leu355Val)
c.1111T>G (p.Leu371Val)
14g.21312500delCA2624070066RPGRIP1c.1145del (p.Leu382Ter)
c.1064del (p.Leu355Ter)
c.1112del (p.Leu371Ter)
 gnomAD v4
14g.21312500T>ACA388862928RPGRIP1c.1145T>A (p.Leu382Ter)
c.1064T>A (p.Leu355Ter)
c.1112T>A (p.Leu371Ter)
 ClinVar dbSNP gnomAD v4
14g.21312500T>CCA388862929RPGRIP1c.1145T>C (p.Leu382Ser)
c.1064T>C (p.Leu355Ser)
c.1112T>C (p.Leu371Ser)
14g.21312500T>GCA388862930RPGRIP1c.1145T>G (p.Leu382Ter)
c.1064T>G (p.Leu355Ter)
c.1112T>G (p.Leu371Ter)
14g.21312501A>CCA388862931RPGRIP1c.1146A>C (p.Leu382Phe)
c.1065A>C (p.Leu355Phe)
c.1113A>C (p.Leu371Phe)
14g.21312501A>GCA484991216RPGRIP1c.1146A>G (p.Leu382=)
c.1065A>G (p.Leu355=)
c.1113A>G (p.Leu371=)
 gnomAD v4
14g.21312501A>TCA388862932RPGRIP1c.1146A>T (p.Leu382Phe)
c.1065A>T (p.Leu355Phe)
c.1113A>T (p.Leu371Phe)
14g.21312503_21312506delCA2695219048RPGRIP1c.1148_1151del (p.Glu383AlafsTer19)
c.1067_1070del (p.Glu356AlafsTer19)
c.1115_1118del (p.Glu372AlafsTer19)
14g.21312502G>ACA388862933RPGRIP1c.1147G>A (p.Glu383Lys)
c.1066G>A (p.Glu356Lys)
c.1114G>A (p.Glu372Lys)
14g.21312502G>CCA388862934RPGRIP1c.1147G>C (p.Glu383Gln)
c.1066G>C (p.Glu356Gln)
c.1114G>C (p.Glu372Gln)
14g.21312502G>TCA388862935RPGRIP1c.1147G>T (p.Glu383Ter)
c.1066G>T (p.Glu356Ter)
c.1114G>T (p.Glu372Ter)
14g.21312503A>CCA388862936RPGRIP1c.1148A>C (p.Glu383Ala)
c.1067A>C (p.Glu356Ala)
c.1115A>C (p.Glu372Ala)
14g.21312503A>GCA388862937RPGRIP1c.1148A>G (p.Glu383Gly)
c.1067A>G (p.Glu356Gly)
c.1115A>G (p.Glu372Gly)
 gnomAD v4
14g.21312503A>TCA388862938RPGRIP1c.1148A>T (p.Glu383Val)
c.1067A>T (p.Glu356Val)
c.1115A>T (p.Glu372Val)
14g.21312504A>CCA388862940RPGRIP1c.1149A>C (p.Glu383Asp)
c.1068A>C (p.Glu356Asp)
c.1116A>C (p.Glu372Asp)
14g.21312504A>GCA484991224RPGRIP1c.1149A>G (p.Glu383=)
c.1068A>G (p.Glu356=)
c.1116A>G (p.Glu372=)
 gnomAD v4
14g.21312504A>TCA388862939RPGRIP1c.1149A>T (p.Glu383Asp)
c.1068A>T (p.Glu356Asp)
c.1116A>T (p.Glu372Asp)
14g.21312505A>CCA388862941RPGRIP1c.1150A>C (p.Ser384Arg)
c.1069A>C (p.Ser357Arg)
c.1117A>C (p.Ser373Arg)
14g.21312505A>GCA388862942RPGRIP1c.1150A>G (p.Ser384Gly)
c.1069A>G (p.Ser357Gly)
c.1117A>G (p.Ser373Gly)
 gnomAD v4
14g.21312505A>TCA388862943RPGRIP1c.1150A>T (p.Ser384Cys)
c.1069A>T (p.Ser357Cys)
c.1117A>T (p.Ser373Cys)
14g.21312506G>ACA388862944RPGRIP1c.1151G>A (p.Ser384Asn)
c.1070G>A (p.Ser357Asn)
c.1118G>A (p.Ser373Asn)
 dbSNP gnomAD v4
14g.21312506G>CCA388862945RPGRIP1c.1151G>C (p.Ser384Thr)
c.1070G>C (p.Ser357Thr)
c.1118G>C (p.Ser373Thr)
14g.21312506G=CA2122452909RPGRIP1c.1151G= (p.Ser384=)
c.1070G= (p.Ser357=)
c.1118G= (p.Ser373=)
14g.21312506G>TCA388862946RPGRIP1c.1151G>T (p.Ser384Ile)
c.1070G>T (p.Ser357Ile)
c.1118G>T (p.Ser373Ile)
 gnomAD v4
14g.21312507G>ACA7088881RPGRIP1c.1151+1G>A (n.1151+1G>A)
c.1070+1G>A (n.1070+1G>A)
c.1118+1G>A (n.1118+1G>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
14g.21312507G>CCA388862948RPGRIP1c.1151+1G>C (n.1151+1G>C)
c.1070+1G>C (n.1070+1G>C)
c.1118+1G>C (n.1118+1G>C)
14g.21312507G=CA2122452913RPGRIP1c.1151+1G= (n.1151+1G=)
c.1070+1G= (n.1070+1G=)
c.1118+1G= (n.1118+1G=)
14g.21312507G>TCA388862947RPGRIP1c.1151+1G>T (n.1151+1G>T)
c.1070+1G>T (n.1070+1G>T)
c.1118+1G>T (n.1118+1G>T)
 gnomAD v4
14g.21312508T>ACA388862949RPGRIP1c.1151+2T>A (n.1151+2T>A)
c.1070+2T>A (n.1070+2T>A)
c.1118+2T>A (n.1118+2T>A)
14g.21312508T>CCA388862950RPGRIP1c.1151+2T>C (n.1151+2T>C)
c.1070+2T>C (n.1070+2T>C)
c.1118+2T>C (n.1118+2T>C)
14g.21312508T>GCA388862951RPGRIP1c.1151+2T>G (n.1151+2T>G)
c.1070+2T>G (n.1070+2T>G)
c.1118+2T>G (n.1118+2T>G)
14g.21312510A=CA2122452916RPGRIP1c.1151+4A= (n.1151+4A=)
c.1070+4A= (n.1070+4A=)
c.1118+4A= (n.1118+4A=)
14g.21312510A>GCA704074192RPGRIP1c.1151+4A>G (n.1151+4A>G)
c.1070+4A>G (n.1070+4A>G)
c.1118+4A>G (n.1118+4A>G)
 dbSNP gnomAD v4
14g.21312511G>ACA2575475917RPGRIP1c.1151+5G>A (n.1151+5G>A)
c.1070+5G>A (n.1070+5G>A)
c.1118+5G>A (n.1118+5G>A)
 gnomAD v4
14g.21312512T>CCA612371641RPGRIP1c.1151+6T>C (n.1151+6T>C)
c.1070+6T>C (n.1070+6T>C)
c.1118+6T>C (n.1118+6T>C)
 dbSNP gnomAD v2 gnomAD v4
14g.21312512T=CA2122452918RPGRIP1c.1151+6T= (n.1151+6T=)
c.1070+6T= (n.1070+6T=)
c.1118+6T= (n.1118+6T=)
14g.21312514C>ACA2624070068RPGRIP1c.1151+8C>A (n.1151+8C>A)
c.1070+8C>A (n.1070+8C>A)
c.1118+8C>A (n.1118+8C>A)
 gnomAD v4
14g.21312515delCA2624070067RPGRIP1c.1151+9del (n.1151+9del)
c.1070+9del (n.1070+9del)
c.1118+9del (n.1118+9del)
 gnomAD v4
14g.21312516A=CA2122452922RPGRIP1c.1151+10A= (n.1151+10A=)
c.1070+10A= (n.1070+10A=)
c.1118+10A= (n.1118+10A=)
14g.21312516A>GCA612371642RPGRIP1c.1151+10A>G (n.1151+10A>G)
c.1070+10A>G (n.1070+10A>G)
c.1118+10A>G (n.1118+10A>G)
 dbSNP gnomAD v2 gnomAD v4
14g.21312517C>ACA2624070069RPGRIP1c.1151+11C>A (n.1151+11C>A)
c.1070+11C>A (n.1070+11C>A)
c.1118+11C>A (n.1118+11C>A)
 gnomAD v4
14g.21312517C>GCA2800816082RPGRIP1c.1151+11C>G (n.1151+11C>G)
c.1070+11C>G (n.1070+11C>G)
c.1118+11C>G (n.1118+11C>G)
14g.21312517C>TCA2624070070RPGRIP1c.1151+11C>T (n.1151+11C>T)
c.1070+11C>T (n.1070+11C>T)
c.1118+11C>T (n.1118+11C>T)
 gnomAD v4
14g.21312518A=CA2122452924RPGRIP1c.1151+12A= (n.1151+12A=)
c.1070+12A= (n.1070+12A=)
c.1118+12A= (n.1118+12A=)
14g.21312518A>GCA2122452925RPGRIP1c.1151+12A>G (n.1151+12A>G)
c.1070+12A>G (n.1070+12A>G)
c.1118+12A>G (n.1118+12A>G)
 ClinVar dbSNP gnomAD v4
14g.21312520T>ACA612371644RPGRIP1c.1151+14T>A (n.1151+14T>A)
c.1070+14T>A (n.1070+14T>A)
c.1118+14T>A (n.1118+14T>A)
 dbSNP gnomAD v2 gnomAD v4
14g.21312520T>CCA960927434RPGRIP1c.1151+14T>C (n.1151+14T>C)
c.1070+14T>C (n.1070+14T>C)
c.1118+14T>C (n.1118+14T>C)
 dbSNP gnomAD v3 gnomAD v4
14g.21312520T=CA2122452927RPGRIP1c.1151+14T= (n.1151+14T=)
c.1070+14T= (n.1070+14T=)
c.1118+14T= (n.1118+14T=)
14g.21312521T>CCA2624070071RPGRIP1c.1151+15T>C (n.1151+15T>C)
c.1070+15T>C (n.1070+15T>C)
c.1118+15T>C (n.1118+15T>C)
 gnomAD v4
14g.21312522G>ACA2624070072RPGRIP1c.1151+16G>A (n.1151+16G>A)
c.1070+16G>A (n.1070+16G>A)
c.1118+16G>A (n.1118+16G>A)
 gnomAD v4
14g.21312524G>ACA2624070073RPGRIP1c.1151+18G>A (n.1151+18G>A)
c.1070+18G>A (n.1070+18G>A)
c.1118+18G>A (n.1118+18G>A)
 gnomAD v4
14g.21312525T>ACA960927435RPGRIP1c.1151+19T>A (n.1151+19T>A)
c.1070+19T>A (n.1070+19T>A)
c.1118+19T>A (n.1118+19T>A)
 dbSNP gnomAD v3 gnomAD v4
14g.21312525T=CA2122452930RPGRIP1c.1151+19T= (n.1151+19T=)
c.1070+19T= (n.1070+19T=)
c.1118+19T= (n.1118+19T=)
14g.21312526C>ACA2624070074RPGRIP1c.1151+20C>A (n.1151+20C>A)
c.1070+20C>A (n.1070+20C>A)
c.1118+20C>A (n.1118+20C>A)
 gnomAD v4
14g.21312526C=CA2122452931RPGRIP1c.1151+20C= (n.1151+20C=)
c.1070+20C= (n.1070+20C=)
c.1118+20C= (n.1118+20C=)
14g.21312526C>GCA2728948358RPGRIP1c.1151+20C>G (n.1151+20C>G)
c.1070+20C>G (n.1070+20C>G)
c.1118+20C>G (n.1118+20C>G)
 dbSNP
14g.21312526C>TCA612371657RPGRIP1c.1151+20C>T (n.1151+20C>T)
c.1070+20C>T (n.1070+20C>T)
c.1118+20C>T (n.1118+20C>T)
 dbSNP gnomAD v2 gnomAD v4
14g.21312528delCA2575475918RPGRIP1c.1151+22del (n.1151+22del)
c.1070+22del (n.1070+22del)
c.1118+22del (n.1118+22del)
 gnomAD v4
14g.21312527C>ACA2624070075RPGRIP1c.1151+21C>A (n.1151+21C>A)
c.1070+21C>A (n.1070+21C>A)
c.1118+21C>A (n.1118+21C>A)
 gnomAD v4
14g.21312527C>TCA2624070076RPGRIP1c.1151+21C>T (n.1151+21C>T)
c.1070+21C>T (n.1070+21C>T)
c.1118+21C>T (n.1118+21C>T)
 gnomAD v4
14g.21312528C>ACA2624070077RPGRIP1c.1151+22C>A (n.1151+22C>A)
c.1070+22C>A (n.1070+22C>A)
c.1118+22C>A (n.1118+22C>A)
 gnomAD v4
14g.21312529A=CA2122452933RPGRIP1c.1151+23A= (n.1151+23A=)
c.1070+23A= (n.1070+23A=)
c.1118+23A= (n.1118+23A=)
14g.21312529A>GCA704074197RPGRIP1c.1151+23A>G (n.1151+23A>G)
c.1070+23A>G (n.1070+23A>G)
c.1118+23A>G (n.1118+23A>G)
 dbSNP gnomAD v3 gnomAD v4
14g.21312530G>ACA2624070078RPGRIP1c.1151+24G>A (n.1151+24G>A)
c.1070+24G>A (n.1070+24G>A)
c.1118+24G>A (n.1118+24G>A)
 gnomAD v4
14g.21312530_21312549delCA2800816083RPGRIP1c.1151+24_1151+43del (n.1151+24_1151+43del)
c.1070+24_1070+43del (n.1070+24_1070+43del)
c.1118+24_1118+43del (n.1118+24_1118+43del)
14g.21312531A>GCA2624070079RPGRIP1c.1151+25A>G (n.1151+25A>G)
c.1070+25A>G (n.1070+25A>G)
c.1118+25A>G (n.1118+25A>G)
 gnomAD v4
14g.21312532G>ACA704074198RPGRIP1c.1151+26G>A (n.1151+26G>A)
c.1070+26G>A (n.1070+26G>A)
c.1118+26G>A (n.1118+26G>A)
 dbSNP gnomAD v4
14g.21312532G=CA2122452935RPGRIP1c.1151+26G= (n.1151+26G=)
c.1070+26G= (n.1070+26G=)
c.1118+26G= (n.1118+26G=)
14g.21312533C>ACA2575475919RPGRIP1c.1151+27C>A (n.1151+27C>A)
c.1070+27C>A (n.1070+27C>A)
c.1118+27C>A (n.1118+27C>A)
 gnomAD v4
14g.21312533C>TCA2624070080RPGRIP1c.1151+27C>T (n.1151+27C>T)
c.1070+27C>T (n.1070+27C>T)
c.1118+27C>T (n.1118+27C>T)
 gnomAD v4
14g.21312534A>GCA2624070081RPGRIP1c.1151+28A>G (n.1151+28A>G)
c.1070+28A>G (n.1070+28A>G)
c.1118+28A>G (n.1118+28A>G)
 gnomAD v4
14g.21312535G>ACA2624070082RPGRIP1c.1151+29G>A (n.1151+29G>A)
c.1070+29G>A (n.1070+29G>A)
c.1118+29G>A (n.1118+29G>A)
 gnomAD v4
14g.21312536T>CCA2575475920RPGRIP1c.1151+30T>C (n.1151+30T>C)
c.1070+30T>C (n.1070+30T>C)
c.1118+30T>C (n.1118+30T>C)
14g.21312537G>ACA2122452937RPGRIP1c.1151+31G>A (n.1151+31G>A)
c.1070+31G>A (n.1070+31G>A)
c.1118+31G>A (n.1118+31G>A)
 dbSNP
14g.21312537G=CA2122452936RPGRIP1c.1151+31G= (n.1151+31G=)
c.1070+31G= (n.1070+31G=)
c.1118+31G= (n.1118+31G=)
14g.21312538T>CCA2624070084RPGRIP1c.1151+32T>C (n.1151+32T>C)
c.1070+32T>C (n.1070+32T>C)
c.1118+32T>C (n.1118+32T>C)
 gnomAD v4
14g.21312539delCA2624070083RPGRIP1c.1151+33del (n.1151+33del)
c.1070+33del (n.1070+33del)
c.1118+33del (n.1118+33del)
 gnomAD v4
14g.21312539T>ACA2575475921RPGRIP1c.1151+33T>A (n.1151+33T>A)
c.1070+33T>A (n.1070+33T>A)
c.1118+33T>A (n.1118+33T>A)
 gnomAD v4
14g.21312540A>CCA2575475922RPGRIP1c.1151+34A>C (n.1151+34A>C)
c.1070+34A>C (n.1070+34A>C)
c.1118+34A>C (n.1118+34A>C)
 gnomAD v4
14g.21312540A>GCA2624070085RPGRIP1c.1151+34A>G (n.1151+34A>G)
c.1070+34A>G (n.1070+34A>G)
c.1118+34A>G (n.1118+34A>G)
 gnomAD v4
14g.21312541C>ACA2624070086RPGRIP1c.1151+35C>A (n.1151+35C>A)
c.1070+35C>A (n.1070+35C>A)
c.1118+35C>A (n.1118+35C>A)
 gnomAD v4
14g.21312542T>CCA2624070087RPGRIP1c.1151+36T>C (n.1151+36T>C)
c.1070+36T>C (n.1070+36T>C)
c.1118+36T>C (n.1118+36T>C)
 gnomAD v4
14g.21312542_21312547delCA2800816084RPGRIP1c.1151+36_1151+41del (n.1151+36_1151+41del)
c.1070+36_1070+41del (n.1070+36_1070+41del)
c.1118+36_1118+41del (n.1118+36_1118+41del)
14g.21312543A=CA2122452939RPGRIP1c.1151+37A= (n.1151+37A=)
c.1070+37A= (n.1070+37A=)
c.1118+37A= (n.1118+37A=)
14g.21312543A>GCA7088882RPGRIP1c.1151+37A>G (n.1151+37A>G)
c.1070+37A>G (n.1070+37A>G)
c.1118+37A>G (n.1118+37A>G)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.21312544T=CA2122452942RPGRIP1c.1151+38T= (n.1151+38T=)
c.1070+38T= (n.1070+38T=)
c.1118+38T= (n.1118+38T=)
14g.21312545G>ACA2624070088RPGRIP1c.1151+39G>A (n.1151+39G>A)
c.1070+39G>A (n.1070+39G>A)
c.1118+39G>A (n.1118+39G>A)
 gnomAD v4
14g.21312547_21312550dupCA612371661RPGRIP1c.1151+41_1151+44dup (n.1151+41_1151+44dup)
c.1070+41_1070+44dup (n.1070+41_1070+44dup)
c.1118+41_1118+44dup (n.1118+41_1118+44dup)
 dbSNP gnomAD v2 gnomAD v4
14g.21312546A>GCA2624070089RPGRIP1c.1151+40A>G (n.1151+40A>G)
c.1070+40A>G (n.1070+40A>G)
c.1118+40A>G (n.1118+40A>G)
 gnomAD v4
14g.21312547A>GCA2624070090RPGRIP1c.1151+41A>G (n.1151+41A>G)
c.1070+41A>G (n.1070+41A>G)
c.1118+41A>G (n.1118+41A>G)
 gnomAD v4
14g.21312549G>CCA2800816085RPGRIP1c.1151+43G>C (n.1151+43G>C)
c.1070+43G>C (n.1070+43G>C)
c.1118+43G>C (n.1118+43G>C)
14g.21312549G>TCA2624070091RPGRIP1c.1151+43G>T (n.1151+43G>T)
c.1070+43G>T (n.1070+43G>T)
c.1118+43G>T (n.1118+43G>T)
 gnomAD v4
14g.21312551C>ACA2624070092RPGRIP1c.1151+45C>A (n.1151+45C>A)
c.1070+45C>A (n.1070+45C>A)
c.1118+45C>A (n.1118+45C>A)
 gnomAD v4
14g.21312551C>GCA2624070093RPGRIP1c.1151+45C>G (n.1151+45C>G)
c.1070+45C>G (n.1070+45C>G)
c.1118+45C>G (n.1118+45C>G)
 gnomAD v4
14g.21312551C>TCA2624070094RPGRIP1c.1151+45C>T (n.1151+45C>T)
c.1070+45C>T (n.1070+45C>T)
c.1118+45C>T (n.1118+45C>T)
 gnomAD v4
14g.21312552A=CA2122452945RPGRIP1c.1151+46A= (n.1151+46A=)
c.1070+46A= (n.1070+46A=)
c.1118+46A= (n.1118+46A=)
14g.21312552A>TCA257501674RPGRIP1c.1151+46A>T (n.1151+46A>T)
c.1070+46A>T (n.1070+46A>T)
c.1118+46A>T (n.1118+46A>T)
 dbSNP
14g.21312554_21312556delCA2624070095RPGRIP1c.1151+48_1151+50del (n.1151+48_1151+50del)
c.1070+48_1070+50del (n.1070+48_1070+50del)
c.1118+48_1118+50del (n.1118+48_1118+50del)
 gnomAD v4
14g.21312554T>ACA612371664RPGRIP1c.1151+48T>A (n.1151+48T>A)
c.1070+48T>A (n.1070+48T>A)
c.1118+48T>A (n.1118+48T>A)
 dbSNP gnomAD v2 gnomAD v4
14g.21312554T=CA2122452947RPGRIP1c.1151+48T= (n.1151+48T=)
c.1070+48T= (n.1070+48T=)
c.1118+48T= (n.1118+48T=)
14g.21312555_21312556insCTCA2800816086RPGRIP1c.1151+49_1151+50insCT (n.1151+49_1151+50insCT)
c.1070+49_1070+50insCT (n.1070+49_1070+50insCT)
c.1118+49_1118+50insCT (n.1118+49_1118+50insCT)
14g.21312556delCA2800816087RPGRIP1c.1151+50del (n.1151+50del)
c.1070+50del (n.1070+50del)
c.1118+50del (n.1118+50del)
14g.21312556T>ACA2581159491RPGRIP1c.1151+50T>A (n.1151+50T>A)
c.1070+50T>A (n.1070+50T>A)
c.1118+50T>A (n.1118+50T>A)
14g.21312556T>CCA655937233RPGRIP1c.1151+50T>C (n.1151+50T>C)
c.1070+50T>C (n.1070+50T>C)
c.1118+50T>C (n.1118+50T>C)
 COSMIC
14g.21312556T>GCA7088883RPGRIP1c.1151+50T>G (n.1151+50T>G)
c.1070+50T>G (n.1070+50T>G)
c.1118+50T>G (n.1118+50T>G)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.21312556T=CA2122452951RPGRIP1c.1151+50T= (n.1151+50T=)
c.1070+50T= (n.1070+50T=)
c.1118+50T= (n.1118+50T=)
14g.21312557A=CA2122452953RPGRIP1c.1151+51A= (n.1151+51A=)
c.1070+51A= (n.1070+51A=)
c.1118+51A= (n.1118+51A=)
14g.21312557A>GCA2624070096RPGRIP1c.1151+51A>G (n.1151+51A>G)
c.1070+51A>G (n.1070+51A>G)
c.1118+51A>G (n.1118+51A>G)
 gnomAD v4
14g.21312557A>TCA257501682RPGRIP1c.1151+51A>T (n.1151+51A>T)
c.1070+51A>T (n.1070+51A>T)
c.1118+51A>T (n.1118+51A>T)
 dbSNP
14g.21312562G>CCA2575475923RPGRIP1c.1151+56G>C (n.1151+56G>C)
c.1070+56G>C (n.1070+56G>C)
c.1118+56G>C (n.1118+56G>C)
14g.21312562G>TCA2624070097RPGRIP1c.1151+56G>T (n.1151+56G>T)
c.1070+56G>T (n.1070+56G>T)
c.1118+56G>T (n.1118+56G>T)
 gnomAD v4

Number of alleles fetched